摘要
目的分析高龄孕妇亚甲基四氢叶酸还原酶(MTHFR)基因多态性及血清尿酸(UA)、同型半胱氨酸(Hcy)水平,探讨出生缺陷的影响因素。方法收集2021年10月至2023年12月青海红十字医院收治的11810例高龄孕妇为研究对象,并根据胎儿是否存在出生缺陷分为观察组(存在出生缺陷,826例)和对照组(未发现明显出生缺陷,10984例),比较两组孕妇的MTHFR基因多态性、血清UA、Hcy水平及临床资料,分析不同民族出生缺陷类型及出生缺陷的影响因素。结果11810例高龄孕妇中,共826例发生出生缺陷,出生缺陷发生率为6.99%;出生缺陷类型中染色体异常发生率最高(2.16%),汉族和回族中的染色体异常发生率均最高(分别为2.21%和1.93%),藏族中神经系统畸形率最高(2.80%)。观察组血清UA及Hcy水平、MTHFR基因C677T位点TT基因型以及总突变T等位基因频率均显著高于对照组(P<0.05)。单因素及多因素分析结果显示,MTHFR基因C677T位点TT基因型、高Hcy水平、高UA水平、常居地为高海拔地区、民族为藏/回族、不良孕产史、孕期未规律服用叶酸、孕早期感冒史、辅助生殖妊娠为出生缺陷的独立危险因素(P<0.05)。结论高龄孕妇MTHFR基因C677T位点TT基因型、高UA及Hcy水平可导致出生缺陷风险增加,需及时关注影响出生缺陷的独立危险因素以采取控制措施,减少高龄孕产妇发生出生缺陷的可能。
Objective:To analyze the polymorphism of methylene tetrahydrofolate reductase(MTHFR)gene,serum uric acid(UA)and homocysteine(Hcy)levels in pregnant women at advanced age,and to explore the influencing factors of birth defects.Methods:A total of 11810 pregnant women at advanced age who were transferred to Qinghai Red Cross Hospital from various hospitals in Qinghai Province from October 2021 to December 2023 were recruited and divided into the observation group(with birth defects,826 cases)and the control group(without significant birth defects,10984 cases).The polymorphism of MTHFR gene,serum UA,Hcy levels and clinical data of the two groups were compared,and the differences of birth defect types and influencing factors of birth defects among different nationalities were analyzed.Results:Among 11810 pregnant women at advanced age,826 delivered neonates with birth defects,the incidence of birth defects was 6.99%.Among these neonates with birth defects,the incidence of chromosome abnormality was the highest(2.16%),the incidence of chromosome abnormality was the highest in women of Han(2.21%)and Hui(1.93%)nationality,the incidence of nervous system abnormality was the highest(2.80%)in women of Tibetan nationality.Compared with the control group,the serum UA and Hcy levels and TT genotype and total mutated T allele frequency of C677T locus of MTHFR genes in the observation group were significantly higher(P<0.05).The results of univariate and multivariate analysis showed that TT genotype of C677T locus of MTHFR gene,high Hcy level,high UA level,high-altitude area for the usual place of residence,Tibetan/Hui nationality,adverse pregnancy history,irregular folic acid intake during pregnancy,cold history in early pregnancy and assisted reproductive pregnancy were independent risk factors for birth defects(P<0.05).Conclusions:TT genotype at C677T locus of MTHFR gene,high UA and Hcy levels could increase the risk of birth defects in pregnant women at advanced age.It is necessary to pay attention to independent risk factors of birth defects in time to take control measures for the reduction of the possibility of birth defects in pregnant women with advanced age.
作者
王生兰
黄军兰
李洁
李宗英
WANG Sheng-lan;HUANG Jun-lan;LI Jie;LI Zong-ying(Department of Fetal Medicine,Qinghai Red Cross Hospital,Xining 810000)
出处
《生殖医学杂志》
CAS
2024年第11期1450-1456,共7页
Journal of Reproductive Medicine
基金
青海省2021年卫生健康科研课题(2021-wjzd-05)。
